Objective: To report the clinical, pathological, and mutational features of hereditary C1 inhibitor (C1INH) deficiency as a cause of isolated vasculitic neuropathy.
Patient: A 35-year-old woman with sensorimotor mononeuritis multiplex and facial palsy.
Results: The sural nerve biopsy results showed a decrease of myelinated fibers with axonal degeneration and severe hypersensitivity vasculitis, with deposition of C1q on vessel walls. Mutational analysis of the C1INH gene found a new mutation, a heterozygous 2-base pair deletion in exon 8. The patient was treated with plasmapheresis and intravenous methylprednisolone, followed by oral prednisolone, which resulted in marked improvement.
Conclusion: Hereditary C1INH deficiency should be included in the differential diagnosis of nonsystemic vasculitis neuropathy.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1001/archneur.64.5.731 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
[Hereditary angioedema type 1, limitations for prophylactic therapy with Lanadelumab: Regarding a case].
Rev Alerg Mex
December 2024
Médica general, Facultad de Ciencias de la Salud, Universidad Militar Nueva Granada, Hospital Universitario Mayor Méderi, Colombia.
Background: Hereditary Angioedema is an autosomal dominant disorder caused by a lack or decrease in the function of the C1 inhibitor. It is a rare disease with low prevalence. Treatment focuses on symptom relief and short- and long-term prevention of acute attacks.
View Article and Find Full Text PDFBase of Skull & Spinal Canal Narrowing in an Adolescent with Autosomal Recessive Hypophosphatemic Rickets Type 2.
Calcif Tissue Int
January 2025
Department of Paediatric Endocrinology, Alder Hey Children's Hospital, Liverpool, UK.
Autosomal recessive hypophosphatemic rickets type 2 (ARHR2) is an uncommon hereditary form of rickets characterised by chronic renal phosphate loss and impaired bone mineralisation. This results from compound heterozygous or homozygous pathogenic variants in ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1), a key producer of extracellular inorganic pyrophosphate (PPi) and an inhibitor of fibroblast growth factor23 (FGF23). ENPP1 deficiency impacts FGF23 and increases its activity.
View Article and Find Full Text PDFIdiopathic non-mast cell angioedema: Treatment insights from global experts.
Allergy Asthma Proc
January 2025
From the Division of Allergy and Immunology, Department of Medicine, University of California San Diego, La Jolla, California and.
Idiopathic non-mast cell angioedema (INMA) is a rare disease typified by recurrent attacks of cutaneous and subcutaneous swelling. Every attack carries the potential for severe morbidity and, in the case of laryngeal involvement, mortality. Whereas therapies approved for hereditary angioedema (HAE) have been used in the care of patients with INMA, little is known with regard to their efficacy for the treatment of this disease.
View Article and Find Full Text PDFManaging Hereditary Angioedema in a Three-Generation Family: Danazol's Promise in Resource-Limited Settings.
Cureus
November 2024
Department of Pediatrics, Mahatma Gandhi Mission (MGM) Medical College and Hospital, Aurangabad, IND.
Background Hereditary angioedema (HAE) is a rare disorder in India, and while prevalence data is limited, it is believed that a significant number of individuals may be affected. Due to restricted access to first-line treatments, older therapies like danazol are commonly used despite associated risks in resource-constrained settings. This study aimed to assess the efficacy of danazol as an affordable long-term prophylaxis (LTP) for HAE in a three-generation family.
View Article and Find Full Text PDFPreimplantation genetic testing for hereditary angioedema as a potential dominant cost-effective intervention.
J Allergy Clin Immunol Pract
December 2024
Department of Microbiology, Immunology and Transplantation, Allergy and Clinical Immunology Research Group, KU Leuven, Leuven, Belgium. Electronic address:
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!